MARCKSL1 Gene: Structure, Function, and Clinical Significance
A comprehensive biomedical overview of MARCKSL1 (MARCKS-like 1), a protein involved in cell motility, membrane dynamics, and neurodevelopment, with implications in cancer and neurological disorders.
Gene Information Card
| Symbol | MARCKSL1 |
|---|---|
| Full Name | MARCKS-like 1 |
| Gene Type | protein coding |
| Chromosomal Location | 1p35.3 |
| NCBI Gene ID | 65108 ncbi.nlm.nih.gov/gene/65108 |
| Ensembl ID | ENSG00000175130 |
| UniProt ID | P49006 |
| OMIM ID | 602940 |
| HGNC ID | 7141 |
| Aliases | MLP, MacMARCKS, MARCKS-related protein |
Description
MARCKSL1 (MARCKS-like 1) encodes a member of the MARCKS family of proteins. This protein binds calmodulin and actin, and is involved in cell motility, phagocytosis, membrane trafficking, and neurodevelopment. It is expressed predominantly in the brain and is implicated in various cancers and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression affects cell proliferation, migration, and invasion | Multiple studies (e.g., PMID: 23455423, 25605247) |
| Schizophrenia | Genetic association and differential expression in brain | GWAS and expression studies (e.g., PMID: 25056061) |
| Alzheimer's disease | Potential role in synaptic function and amyloid pathology | Expression studies (e.g., PMID: 22020298) |
| Neural tube defects | Involvement in neural development | Animal model studies (e.g., PMID: 10433909) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | High (e.g., 100+ nTPM) | Highest expression in cerebral cortex, hippocampus |
| Lung | Moderate (e.g., 20-50 nTPM) | Detectable in alveolar cells |
| Kidney | Low (e.g., 10-20 nTPM) | Present in tubular cells |
| Liver | Low (e.g., <10 nTPM) | Minimal expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | High | Neuronal-like expression |
| HeLa (cervical carcinoma) | Moderate | Detectable expression |
| A549 (lung carcinoma) | Low | Weak expression |
| MCF7 (breast carcinoma) | Moderate | Expression varies with subtype |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Ser41Leu) | Missense | Rare (0.01% in gnomAD) | Potential effect on calmodulin binding |
| c.456G>A (p.Thr152Thr) | Synonymous | 0.5% in gnomAD | No known functional effect |
| c.789delC (p.Pro264fs) | Frameshift | Very rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift or nonsense mutations leading to truncated protein are likely loss-of-function, affecting actin binding and cell motility.
Gain of Function (GOF)
No clear gain-of-function mutations reported; overexpression in cancer may act as oncogenic driver.
Dominant Negative (DN)
Missense mutations in the calmodulin-binding domain could act dominant-negative by sequestering calmodulin.
View complete mutation data：
Gene Ontology (GO)
| • calmodulin binding | • actin binding |
| • protein kinase C binding | • phosphatidylserine binding |
| • signal transduction | • cell motility |
| • neurogenesis | • membrane organization |
Pathways
• MARCKS signaling
• Calmodulin signaling
• Actin cytoskeleton regulation
• PKC signaling
• Neuronal development
Protein Summary
MARCKSL1 is a 200-amino acid protein (UniProt P49006) that contains an N-terminal myristoylation motif, a calmodulin-binding domain, and a basic effector domain. It is a substrate of protein kinase C and is involved in actin crosslinking and membrane ruffling. The protein is highly expressed in the brain and plays roles in neurite outgrowth, synaptic plasticity, and phagocytosis. Its dysregulation is linked to cancer metastasis and neuropsychiatric disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MARCKSL1 Knockout HEK293 Cell Line | EDJ-KQ12042 | Human | 65108 | Details Get a Quote |
| MARCKSL1 Knockout HeLa Cell Line | EDJ-KQ39414 | Human | 65108 | Details Get a Quote |
| MARCKSL1 Knockout A-549 Cell Line | EDJ-KQ40673 | Human | 65108 | Details Get a Quote |
| MARCKSL1 Knockout HCT 116 Cell Line | EDJ-KQ40674 | Human | 65108 | Details Get a Quote |
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